Sunday, August 7, 2011

ACC and the Heart ♥ medical awareness

Does your child have Agenesis of the Corpus Callosum?

Do you have a loved one or family member with ACC?

This is a serious and very important message regarding
the heart!

20% of kids who have ACC have heart problems.

That means:

1 out of every 5 kids with ACC has a heart condition.

Read what Dr. Elliott Sherr, an expert on ACC, says:

"Almost 1/4 of the kids had heart problems. Now these are not innocent murmurs that then go away. These are actually kids who have real heart disease.

So my recommendation on any child with ACC is that they get a comprehensive heart evaluation."

Who is Dr. Sherr?

Dr. Elliott Sherr is a Pediatric Neurologist at
University of California, San Francisco (UCSF). Dr. Sherr is highly knowledgeable and an expert on Agenesis of the Corpus Callosum. He sees many patients, children, who have ACC and Dr. Sherr is highly respected and well-liked by parents. Dr. Sherr is on the Board of the National
Organization for Disorders of the Corpus Callosum (NODCC) and he speaks at the annual Conferences.

A few of the congenital heart conditions seen with ACC are:

Atrial Septal Defect (ASD)
Ventricular Septal Defect (VSD)
Coarctation of the Aorta
Tetralogy of Fallot
Hypoplastic Left Heart Syndrome (HLHS)

The fact that 20% of kids with ACC have a heart
condition is not limited to just babies or very young
children with ACC. It can affect older kids with ACC, too.

See for yourself. I came across the parent of a teenage child
with partial ACC who shares a very eye-opening story about
her daughter's heart.

Jody, parent of 15-year-old child, said:

"My 15 year old daughter, Jurie, has Partial Agenesis of the Corpus Callosum (P-ACC) with dilated lateral ventricles of the occipital and temproal horns. Due to the dilated lateral ventricles, she has hydrocephalus which fills the ventricles. She doesn't need a shunt because there is no extra pressure from the fluid. She has a lot of sensory issues with this condition, as well as, dyspraxia symptoms. I homeschool her because she had difficulty learning in a classroom full of kids.

I have four children, and Jurie is the onlly one on mine who has P-ACC. The doctor, however, ordered the genetic testing, and Jurie's was not genetic. Jurie was also born with an Atrial Septal Defect, which is a hole in the heart. We jjust found out that she had the hole less than two months ago [at 15 years of age] because no doctor had ever heard the heart murmur. This was because the hole was rather large, 19 mm, and the blood flow was large through the hole. She had the hole repaired on April 15 using a heart catheterization. She has strabismus/crossing of the eye and moderate scoliosis, also. She suffered from migraines for years, but by fixing the heart this has taken care of the migraines."

Jody's child was not diagnosed with partial ACC until she was 14 years old.

When a person is diagnosed with Agenesis of the Corpus
Callosum, they are at risk for having midline defects.
One of those possible midline defects includes the heart.

A person who has ACC (a congenital birth defect) is at
risk to possibly have a congenital heart defect.
Congenital means they are born with it.

My own child, Matthew, who is 17 years of age, who has
complete ACC, was sent to a Pediatric Cardiologist when
he was an infant, after he was diagnosed with ACC.

He had a comprehensive examination and he also had tests
done when he was a baby, which ruled out a heart defect.

Possible tests might include:


electrocardiogram (EKG)

The medical tests (for my child) were done right in the
doctor's office and I received the results of the tests

If my child, Matthew, had not been seen by a Pediatric
Cardiologist and had not been tested when he was a baby
to rule out a heart defect, I would definitely schedule
an appointment for my child now to have a comprehensive
heart evaluation by a Pediatric Cardiologist, even at
his age of 17 years old.

Please be aware that there are some congenital heart
defects (present at birth) that may remain unrecognized
until adulthood.

As a parent, myself, of a child with ACC, this is a message
from my ♥ heart to each one of you reading this who have a
child, a family member or a loved one who has Agenesis of the Corpus Callosum.

Please be advised the National Organization for Disorders of the Corpus Callosum (NODCC) website states:

"Twenty percent (20%) of patients with DCC have cardiac anomalies and therefore all DCC patients should have a careful cardiac evaluation."

DCC=Disorder of the Corpus Callosum

Note: Dr. Sherr's quote about ACC and heart defects is found at Dr. Sherr Talks about ACC

Click on "comments" below and read what others are saying:


  1. If my ACC son had an exam and was diagnosed with a murmur should he be re-examined? Should I trust that one exam?

  2. Thank you for sharing this - this has never been addressed with Beau. I will be speaking with his family doctor in a few weeks at our appointment and will push for further testing. Thank you for sharing - this has been at the back of my mind for the last month or so.

  3. Response to Anonymous poster on 8-8-2011,

    Thank you for your comment. You asked:

    "If my ACC son had an exam and was diagnosed with a murmur should he be re-examined? Should I trust that one exam?"

    My thoughts are:

    Did your ACC son have a thorough exam performed by a pediatric cardiologist when he was diagnosed with a heart murmur?

    Did the pediatric cardiologist do an echocardiogram and an electrocardiogram (EKG) on your son to rule out a possible heart defect?

    Did the pediatric cardiologist know that your son has ACC when he examined him?

    If your son was NOT seen by a pediatric cardiologist and if he did NOT have an echocardiogram and electrocardiogram (and other possible tests that the pediatric cardiologist may have ordered), then I would strongly suggest that you schedule an appointment for your son to be seen by a highly recommended pediatric cardiologist for a thorough cardiac exam and testing.

    I don't know what your son's doctor told you regarding your son's heart murmur or exactly how the heart murmur was diagnosed.

    If you have any apprehension about your son's "exam" and diagnosis of a heart murmur, then I would suggest that you seek medical advice from a pediatric cardiologist.

    Please be advised that this is NOT medical advice. I can only offer my personal opinion as one mom of a child with ACC to another parent of a child with ACC.

    Please feel free to e-mail me if you may want to share anything further.


  4. Hi Amanda,

    Thank you for taking time to post your comment and for all that you shared. I am so glad that you plan to discuss this medical matter with Beau's family doctor and pursue a cardiac exam and testing. I can tell you that my son's examination and testing at the pediatric cardiologist went very smoothly, the tests were not painful and we received immediate results. It was a big relief to know that my son did not have a heart defect.

  5. Thank you for sharing! We recently saw a cardiologist for our six year old with complete Agenesis of the Corpus Callosum. We found he has a PFO but no other heart abnormalities. For as simple as the the echo and EKG were, they provided a lot of peace of mind.

    The cardiologist wants to see him again in a few years to monitor him. He has a specific rare syndrome and in her opinion it's wise to keep an eye on his heart in case anything unexpected should come up.


  6. Amy,

    Thank you very much for your comment and for all of the information you shared about your 6-year-old son with complete ACC, who also has a Patent Foramen Ovale (PFO).

    Your input is greatly appreciated.

    I hope that your son is doing very well.


    For anyone interested:

    More info about a Patent Foramen Ovale (PFO), including definition, symptoms, causes and possible complications, can be found at the link below from the Mayo Clinic:

    (PFO) Patent Foramen Ovale-Mayo Clinic

  7. I am responding because I had heart surgery when I was 8 to correct a heart defect. I have Coarctation of the Aorta (one of my aortic valves was narrowed not allowing blood to get through normally). Had heart murmur since I was born but found it needed to be corrected when I was 8 for health reasons. Doctors say if I didn't have surgery I'd already have had a stroke.

    Also I have had 3 eye surgeries to correct the crossing and weakness in my eyes.

    Please feel free to contact me privately ( if you have anymore questions or just want to vent or hear more of my experiences. I have known about my ACC since I was 4 years old.

    Sarah Mellnik (29 yr old with C-ACC)

    I, Sandie-Matthew's Mom, asked Sarah a few questions...

    1. When did you find out that you have Coarctation of the Aorta? At what age?

    Sarah's Reply:

    "Doctors found a heart murmur when i was 18 months old, but at that time it was a functional murmur and no surgery was needed. When I was 8 years old I had a lot of testing done and was sent to a childhood psychiatrist for hearing voices and seeing things. It was in his examination of me that he heard the murmur and noticed my blood pressure was different in my legs and arms. I was then sent to a Cardiac doctor for further evaluation and it was determined that I should have surgery. So the end of November 1990 I had a heart surgery for coarctation repair."

    2. Were you monitored closely by a pediatric cardiologist on a regular basis before you needed to have surgery at 8 years of age?

    Sarah's Reply:

    "I had regular doctor visits, and evaluations for the developmental delays where the murmur was always noticed but nothing specifically to check the murmur. I now go every 2 years to have an EKG and an echocardiogram just to be on the safe side."

    Sandie-Matthew's Mom wrote:

    Anything else you may want to add about the heart condition, for others to read, would be wonderful, Sarah.

    Sarah's Reply:

    "I know that for parents with young children with any abnormailty is a very scary thing, especially when heart surgery, or any surgery in that matter, is involved or even talked about. I know that without the surgery there is a strong likelyhood that I might not be here, or have already had a stroke. Don't ever give up on finding answers for your children."

    Sarah Mellnik (29 yr old with C-ACC)

    Sarah's E-mail:

    P.S. Sarah also adds some additional medical history:

    "As I was going through my records....this is just some of the diagnosis that I had:

    Evaluated at 18 months found to have a functional heart murmur and Gastroesophageal reflux

    Recurrent ear infections until age 2

    At age 4 after developmental progress and mood swing concerns an physical evaluation showed minor facial anomalies, scapular winging, heart murmer, and moderate gastroesophageal reflux.

    The neurological examination found mild hypotonia, jerky visual tracking with crossing of the eyes

    Abnormal pinnae, Permanent hyperopia

    Overaction of Inferior Oblique Muscle"

    Thank you very much, Sarah, for taking the time to not only post a comment but for your kindness and willingness to answer my questions and to also include your e-mail in the event that anyone else reading this who may have questions of their own can contact you. That is very nice and generous of you!

    Sandie - Matthew's Mom

  8. My son who has ACC has had coarctation of the aorta repair at age 4 months in 1990.

    The doctors said his aorta was so twisted that if it were not for the VSD (ventricular septal defect) He would have died of heart failure.

    He had surgery 1n 1998 for sub-aortic stenosis that started to develop at age 18 months.

    He had a atrophied testicle removed from high in his abdomen at age 2. It took his first 18 months to even find his highly undescended testicles. He needs testosterone shots on a monthly basis because his body doesn't produce enough testosterone.

    He (age 21 ACC) and his sister (age 23 ACC) have bilateral coloboma of the iris. It is a surface condition that only affects them with light sensitivity.

    Both children also have the VSD but my daughter's has closed.

    My son had occular motor apraxia in his first few months but seemed to outgrow it as the doctors predicted. He has some other migration of brain cell issues and he struggles with mood disorder/anxiety disorder. He displays dx such as bipolar, OCD ADD, ODD etc. But the symptoms are so random his behavior is more of an environmental (what is happening around him at the time) then an actual sydrome. He has high anxiety, paranoia, anger issues. along with CONTROL issues.

    His sister seems to only display social deficiencies and some learning disabilities. She has a part time job at Catholic Charities. We are awaiting housing for Paul. He also has impulse control issues. Things he does in anger, he forgets.

    Mom to Daughter 23 ACC and Son 21 ACC... etc.


  9. My son is 6 years with C-ACC and had heart surgery at 5 days old co-arctation of the aorta. Has been good so far.

    If my son Michael, who is 6 now, wasn't born premature they never would have found out that he needed heart surgery at 5 days old. A doctor was doing a routine exam in the hospital because he was born early and was feeling for his pulses and he had very weak pulses in his arms and legs so Michael went in for heart surgery coarctation of the aorta at 5 days old.

    We already knew he had C-ACC when I had an ultrasound at 5 months pregnant so that was very scary as well..

    Thank God they found it early. I don't know what would have happened if we took him home.

    He sees cardiology every 2 years and gets checked with an ECHO (echocardiogram) and EKG (electrocardiogram).

    Don't know if anyone else has this as well Michael has MRI's every 2 years as well for the ACC they found out the brain scan that he is missing his pituitary gland not where it should be in the brain so Michael gets a growth hormone injection.

    We wondered why at 5 he wasn't eating as much and was not growing. Doing great now.

    They never have linked the heart defect the brain defect and the pituitary together. We have had alot of genetic testing.

    You would never know anything. He is starting first grade this Sept. The littlest things bring me to tears he is writing his first name can count to 40 and knows all the months of the year and I can only hope and pray that this keeps up.

    What is scary is he forgets it sometimes so like I was told by doctors it will always be repetitive teaching and training.


  10. Thank you for sharing. My son has Complete ACC and he is 12. We found out that he had ACC when he was 8. He sometimes gets headaches, not alot, but enough to wonder if I should have things checked out. This helps. I am going to contact a pediatric cardiologist for an exam. It is better to be safe than sorry.


I am very interested in reading your comments and
look forward to hearing from you. Thank you.